Skin and systematic disease

Question 1

Name 3 genetic GI diseases that show skin changes

Answer 1

Hereditary haemorrhagic telangiectasia

Ehlers danlos (collagen – genetic)

Blue rubber bleb naevus - blue marks on the skin and internal organs caused by abnormal veins

Question 2

Name 3 Inflammatory/autoimmune GI diseases that show skin changes

Answer 2

Erythema nodosum

Degas disease – GI haemorrhage - develop papules

Pyoderma gangrenosum - common in IBD - pustules or nodules become ulcers that progressively grow

Question 3

Vitamin A can result in what?

Answer 3

Papule formation

Question 4

Which vitamins are deficient in Scurvy or Beriberi?

Answer 4

Scurvy = vitamin c 
Beriberi = vitamin b1 (thiamine)

Question 5

Skin signs in Diabetes (6)

Answer 5

Acanthosis nigricans - brown to black, velvety hyperpigmentation

Diabetic bullae

Diabetic dermopathy

Disseminated granuloma annulare - ring or arc-shaped areas on the skin.

Eruptive xanthomas - pink papules with creamy centre

Necrobiosis lipoidica - rare granulomatous skin disorder which can affect the shin

Question 6

Skin changes in thyroid disorders

Answer 6

Hyperthyroidism - Thyroid acropachy - soft-tissue swelling of the hands and clubbing of the fingers.

Hypothyroidism - pre-tibial myxoedema

Question 7

Autoimmune diseases that have associated skin changes

Answer 7

Cutaneous lupus
Cutaneous vasculitis (small vessel = commonest)
Alopecia
Vitiligo

Question 8

Presentation of Cutaneous lupus

Answer 8

Cutaneous – Butterfly rash/Plaques with clear margins/Photosensitivity /Negative antibodies

Question 9

Alopecia

Answer 9

Alopecia areata - body rejects own hair (T-lymphocyte, cytokine rejection of hair). Totalis = loss on scalp, universalis = all over the body

Question 10

Cause of Vitiligo

Answer 10

Destruction of melanocytes

Question 11

In Cancer, the common underlying malignancies causing skin changes are…

Answer 11

Carcinoid Syndrome
Ectopic ACTH
Pagets disease
Paraneoplastic pemphigus
Acquired hypertrichosis
Erythema Gyratum Repens
Bazex Syndrome
Leser Trelat

Question 12

What is Carcinoid syndrome? How does it present?

Answer 12

A paraneoplastic syndrome i.e it is the direct result of a tumour.

Episodic flushing (mins-hours), no sweating. 
Facial telangiectasia due to continual blushing

Question 13

GI carcinoid arises due to metastases from which organ?

Answer 13

Liver

Question 14

What is Ectopic ACTH syndrome caused by? What skin changes are seen in this condition?

Answer 14

Tumour production of adrenocorticotropic hormone (ACTH)

Generalised Hyperpigmentation

Causes increased MSH so increased release of melanin from melanocytes

Question 15

Skin changes associated with Paget’s disease

Answer 15

Eczematous Plaque (nipple/Areola) which is an extension of underlying ductal adenocarcinoma

Question 16

Extra-Mammary Pagets

Answer 16

Looks similar to eczema

Usually in axilla or an-genital areas

As a result of Primary Intraepithelial
Adenocarcinoma in ¾ cases

Question 17

Paraneoplastic Pemphigus

Answer 17

Erosive stomatitis (mouth), rash

Associated with underlying malignancy

Auto-antibodies driven - attack proteins holding skin together (blister formation)

Associated with non-hodgkin’s + castlemans disease

Question 18

Acquired hypertrichosis lanuginosa

Answer 18

Very rare
Acute onset of lanugo (thin, unpigmented) hairs on face and body

linked with colorectal cancer or lung cancer

Question 19

Erythema Gyratum Repens

Answer 19

Concentric erythematous lesions

Associated with lung cancer

Question 20

Bazex Syndrome

Answer 20

Symmetrical hyperkeratosis of hands and feet

Associated with SCC: Bronchial, oropharyngeal, Gastric, colon, biliary adenocarcinomas

Question 21

Leser - trelat

Answer 21

Eruptive seborrhoeic keratosis

GI adenocarcinomas

Question 22

Skin conditions associated with cancer

Answer 22

Acanthosis Nigricans
Dermatomyositis
Acquired angioedema

Question 23

Dermatomyositis

Answer 23

Inflammatory myopathy + rash

Rash around the eyes

Gottrons papules: red maculo-papular lesions over bony prominences

Shawl sign - rash over where you’d wear a shawl

Photosensitive

Asso with -Ovarian, breast, lung ca

Question 24

Skin conditions that may be associated with malignancy

Answer 24

Bullous pemphgoid - common
Sweets Syndrome - rare
Pyoderma gangrenosum
Acquired ichthyosis

Question 25

Acanthosis Nigricans

Answer 25

Can precede malignancy - gastric adenocarcinoma

Older patient
Involves lips
Weight loss

Question 26

Bullous pemphigoid

Answer 26

Pretty common

Autoimmune – body attacks proteins holding skin together

More common in elderly >65

Question 27

Pyoderma gangrenosum

Answer 27

Ulcers form. Underlying haematological malignancies

Question 28

Genetic tumour syndromes with associated skin changes

Answer 28

Peutz-Jeghers
Muir-Torre
Neurofibromatosis

MEN syndromes

Howel-Evans - thicken of skin on hands and soles of feet

Question 29

Cancers associated with Neurofibromatosis?

Answer 29

Nerve sheath

Carcinoid

Question 30

What is Peutz-Jeghers?

Answer 30

An inherited condition that puts people at an increased risk of developing hamartomatous polyps in the GI tract